Freyja Amber Bax will be 8 months old next week, but she has never gotten to join her parents at their Fenton-area home.
Michael Bax and Erin Locke’s daughter was born on Feb. 25 with Haddad syndrome, a rare genetic disease that’s a combination of a breathing disorder called congenital central hypoventilation syndrome (CCHS) and an intestine disorder called Hirschsprung’s disease.
Freyja is being treated at St. Louis Children’s Hospital, where she is on a ventilator to breathe and has a Broviac central line for nutrition and an ostomy bag to remove waste from her system.
She has undergone multiple surgeries since birth, and the earliest her parents might be able to take her home is Nov. 1.
Erin, 24, said Freyja’s condition is so severe that at one point, she and Michael, 28, considered comfort care, which would have involved taking their daughter off the ventilator and keeping her as comfortable as possible before she died.
“(The doctors) were saying with all of this stuff she is going to require it is not going to be a fair life for her,” Erin said. “They really made me question the hardest decision I thought I would have to make. I called my parents and said I think we are going with comfort care. The next day, I was like, ‘No.’ I did research and reached out to people who have similar diagnoses to Freyja, and I was like, ‘There is no way we are going with comfort care.’
“Sure enough, she beat the odds. She is doing everything they didn’t expect.”
Erin previously worked as a welder, and Michael is a carpenter for his father’s company, Bax Built Construction in Barnhart.
Michael said insurance covers some of the medical expenses, but he and Erin are dealing with mounting bills. They also must buy equipment needed for Freyja to come home and pay to line up 24-hour in-home nursing care.
A GoFundMe page has raised $27,167 to help the family with expenses, and a trivia night was held this summer that raised about $10,000, Erin said.
Another trivia night to benefit the family is scheduled for 6 p.m. Saturday, Oct. 21, at the Meramec Arnold Elks Lodge, 1515 Outer Road, in Imperial. Entry in the 10-round trivia contest costs $250 for a table of eight players and $40 for individual players.
For information about the trivia night, contact Mike Bieri at 636-575-3453 or by email at michaelabieri@yahoo.com or Marty Franczak at 314-229-4210 or Franczakmp@gmail.com.
Michael said he appreciates the support from family and friends.
“We didn’t really want to post anything about this and keep it to ourselves. We were focusing on the devastation, but our family was like, you need to do this,” he said.
Rare disease
Dr. Steven Brennan, a Washington University pulmonologist at St. Louis Children’s Hospital, has helped care for Freyja.
He said there are only about 2,000 knowns cases of CCHS.
“CCHS itself is extraordinarily rare,” Brennan said. “Hirschsprung’s is less rare. To have the two together is known, but it is extraordinarily rare.”
Dr. Lee Choo-Kang, a pediatric pulmonologist with the Children’s Respiratory and Sleep Medicine clinic at Mercy Hospital St. Louis in Creve Coeur, said there is no cure for Haddad syndrome.
“We stress the importance of optimizing quality of life,” said Choo-Kang, who is not involved in Freyja’s treatment and has had just one patient diagnosed with Haddad syndrome in his 22-year career. “Depending on the severity, the child may be normal in other development, but they may require breathing support. They may get better as older.”
There is hope Freyja will be able to breathe on her own while awake when she is older and only need to use a ventilator to breathe while sleeping. However, Erin said Freyja was born without ganglion cells, which push waste through the intestine, and her daughter will likely never be able to eat food.
Erin said Freyja receives lipids, vitamins and minerals intravenously, and her daughter will likely be fed through an IV her entire life.
“(Freyja) has been one of the most difficult cases they have ever had,” Erin said. “It is almost like a guessing game, but a very articulate guessing game. They are not messing around. They are just stumped by her case. Dr. (Jacqueline) Saito (a pediatric surgeon at Children’s Hospital) is like, ‘Freyja is a case I have never had before.’”
Erin said there were no indications her daughter would have any complications after birth.
“It was a healthy pregnancy,” Erin said. “The baby was healthy.”
Brennan said Haddad syndrome is typically not diagnosed until after a child is born because it would require an invasive genetic test on the mother, which could cause health issues for the mother or cause a miscarriage.
“You can in theory detect every genetic disease that we know about, if you take genetic material from the pregnant mother,” Brennan said. “But it is risky, invasive and no one is going to do that for every pregnancy. There has to be a really good reason to take that risk and find the disease.”
Fighting
Erin said Freyja was born at Progress West Hospital in O’Fallon, but her daughter was quickly transported to St. Louis Children’s Hospital.
“They gave me Freyja to hold for like two seconds then they took her back and said, ‘We are taking her to (the neonatal intensive care unit) and then she is being transferred to Children’s; something is wrong,’” Erin said. “There were a lot of emotions. I didn’t expect that.”
Michael said he and Erin learned on Feb. 26 that Freyja had been diagnosed with CCHS.
“It was a scary phone call,” he said.
Erin said it took a couple of more weeks before Freyja was diagnosed with Hirschsprung’s Disease.
Erin and Michael said it’s hard to feel like first-time parents since they haven’t been able to take their baby home.
“It is hard to feel like a parent when there are a million different people taking care of your kid,” Erin said. “You don’t get to hold her when you want to. We don’t get to see her smile or laugh. Everyone looks forward to bringing their baby home.”
She and Michael said they do not know for sure when Freyja will come home. While Nov. 1 is the target date, they still have to arrange around-the-clock in-home nurse care, which has been difficult.
“The home nursing piece, we struggle with that so much,” Brennan said. “We have become pretty good at saving children’s lives, but as a community, we are not investing in how to take the next step of getting children out of the hospital and keeping them at home. That is a huge undertaking.”
Erin and Michael said they plan to move in with Michael’s parents, Mike and Rebecca Bax, in Barnhart, and Erin’s parents, Christina and Michael Locke, also are helping the young family.
“We are very lucky our parents are here for us and love us and want to do whatever they can,” Erin said.
Michael said everyone’s focus is on getting Freyja home.
“It is hard right now, but everything is about her,” he said. “Everything else will fall into place.”
Erin said she is convinced Freyja still can live a full life.
“I am making it my biggest goal to make sure she has a life that she has lived,” Erin said. “I will not let anything stop her. She is going to be very strong and independent. She will not let anything get in her way. I just know it. It is a mother’s instinct.”